FAQ: What is Gaucher Disease? Why Is Early Diagnosis a Challenge?

Gaucher disease is one of these rare diseases, which is an inherited metabolic disorder.

We are aware of diseases like dengue, typhoid, malaria, etc due to the commonness of their existence. Because they are so common, there are also resources to fight them. But what about the diseases we've rarely or never heard of?

Rare diseases are the types of diseases that affect a very small percentage of the world's population. Gaucher disease is one such rare disease, which is an inherited metabolic disorder.

October is marked as the "International Gaucher Disease Awareness Month."

To gain a better understanding and knowelege of this disease, FIT spoke to Dr Aashka Prajapati, Neuberg Centre for Genomic Medicine, visiting consultant at Sterling Hospital, CIMS Hospital, and the Genetic Care Clinic in Ahmedabad.

We also spoke to Dr. Sankar VH MD, DCH, MNAMS (Paediatrics) DM (Medical Genetics) FIAP, Additional Professor & Geneticist at the SAT Hospital, Government Medical College in Thiruvananthapuram, Kerala. He has over 23 + years of experience in teaching and guiding graduates and postgraduates in a variety of fields. The answers are based on their responses.

What is Gaucher Disease?

Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). Those who have Gaucher disease, have are missing an enzyme that breaks down fatty substances called lipids – which starts accumulating in liver and spleen.

Across the world, 10,000 to 15,000 people are said to have this disease. It is difficult to diagnose, as it is possible in genetic centres, high volume paediatric centres.

Types Of Gaucher

• Type 1:This is the most common type and affects about 90% of people with the disease. If you have type 1, you don’t have enough platelets in your blood. This can make you bruise easily and feel very tired.

• Type 2: This form of the disease affects babies by age 3 to 6 months – it has more chances of being fatal.

• Type 3: Symptoms include skeletal problems, eye movement disorders, seizures, liver and spleen enlargement, among others.

The Symptoms Of Gaucher Disease

• Enlarged spleen

• Enlarged liver

• Eye movement disorders

• Yellow spots in the eyes

• Not having enough healthy red blood cells (anemia)

• Extreme tiredness (fatigue)

• Bruising

• Lung problems

• Seizures

For diagnosis, experts will look at your description of symptoms, medical history of parents, and blood test results.

Challenges in Diagnosis

First of all, early diagnosis doesn't happen. The symptoms start around anytime after one year, from the period of nine months to six months.

Earlier symptoms are very mild, but it is all a progressive disease right, so the manifestations will increase in risk.

An early diagnosis is a challenge for the clinician, because it has subtle symptoms to diagnose.

What Happens If It Is Left Undiagnosed?

• Delayed growth

• Delayed puberty

• Weak bones

• Bone pain

• Brain damage

• Joint pain

• Trouble walking or getting around

• Not having enough healthy red blood cells (anemia)

• Extreme tiredness (fatigue)

Treatment Available

• Enzyme replacement therapy

• Regular physical exams and bone density screening to check your disease

• Bone marrow transplant

• Surgery to remove all or part of your spleen

• Joint replacement surgery

Do We Need More Progressive Reforms?

India requires reformed policies in the government to particularly identify this rare disease. Earlier diagnosis is needed, and it is more important to track those who benefit from early diagnosis.

They should at least consider a reference center where all Gaucher patients go and get them enzyme replacement if suspected.

If someone suspects very early that they or their children have the rare disease, when a minimal symptoms start, an earlier diagnosis can be made – so that we can ascertain the exact prevalence of the case.